1. Gene
  2. OGDHL - oxoglutarate dehydrogenase L Gene

OGDHL - oxoglutarate dehydrogenase L Gene

Homo sapiens

Also known as YOBELN

Gene ID: 55753 | Gene type: protein coding

About OGDHL

Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:49,734,641-49,762,379 (from NCBI)

This gene has 6 transcripts (splice variants), 177 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 82.8), liver (RPKM 20.1) and 3 other tissues.

Summary

The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the Akt signaling cascade and can suppress the growth of cervical Cancer cells. [provided by RefSeq, Dec 2016]

OGDHL Products(11)

mRNA Protein Name
NM_001143996.2 NP_001137468.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform b
NM_001143997.2 NP_001137469.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c
NM_001347819.1 NP_001334748.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform a
NM_001347820.1 NP_001334749.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform b
NM_001347821.2 NP_001334750.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c
NM_001347822.1 NP_001334751.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c
NM_001347823.1 NP_001334752.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform d
NM_001347824.2 NP_001334753.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform d
NM_001347825.2 NP_001334754.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform e
NM_001347826.1 NP_001334755.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform f
NM_018245.3 NP_060715.2 2-oxoglutarate dehydrogenase-like, mitochondrial isoform a

OGDHL Protein Structure

E1_dh

E1_dh: Dehydrogenase E1 component (244 - 568)

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (637 - 852)

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  • 1010 a.a.
Protein Preferred Names Protein Names

2-oxoglutarate dehydrogenase-like, mitochondrial

2-oxoglutarate dehydrogenase complex component E1-like

Related Diseases

Diseases Alias
Yoon-Bellen Neurodevelopmental Syndrome

YOBELN

Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction

VETD

Heterozygotes For Tbx2 Variants

Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q

CMT2Q

Charcot-Marie-Tooth Neuropathy, Type 2q

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Neuropathy Type 2q

Charcot-Marie-Tooth Disease 2q

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q

Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Dyskeratosis Congenita, Autosomal Recessive 2

DKCB2

Autosomal Recessive Dyskeratosis Congenita 2

Dyskeratosis Congenita, Autosomal Recessive, 2

Dyskeratosis Congenita, Autosomal Recessive, Type 2

Lissencephaly 6

Lis6

Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits

Immunodeficiency 18

IMD18

Cd3-Epsilon Deficiency

Immunodeficiency 18, Scid Variant

Cd3epsilon Deficiency

Immunodeficiency 18, Severe Combined Immunodeficiency Variant

Immunodeficiency, Type 18

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia

CMS6

Cmsea

Congenital Myasthenic Syndrome 6

Familial Infantile Myasthenia Gravis 2

Fimg2

Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type Ia2, Formerly

Cms1a2, Formerly

Cms Ia2, Formerly

Myasthenia, Familial Infantile, Formerly

Fim, Formerly

Myasthenia Gravis, Familial Infantile, 2, Formerly

Fimg2, Formerly

Cms Ia2

Cms1a2

Congenital Myasthenic Syndrome 6, Presynaptic

Congenital Myasthenic Syndrome Type Ia2

Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea

Fim

Cms1a

Cms-Ea

Cms Ia

Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type 1a

Congenital Myasthenic Syndrome Type Ia

Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus OGDHL MGD MGI:3616088
Bos taurus OGDHL VGNC VGNC:32407
Macaca mulatta OGDHL VGNC VGNC:81490
Rattus norvegicus OGDHL RGD RGD:1310916
Felis catus OGDHL VGNC VGNC:97544
Canis familiaris OGDHL VGNC VGNC:44104